Incidental Mutation 'R3783:Thoc5'
ID |
272126 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Thoc5
|
Ensembl Gene |
ENSMUSG00000034274 |
Gene Name |
THO complex 5 |
Synonyms |
Fmip, PK1.3, 1700060C24Rik, A430085L24Rik |
MMRRC Submission |
040875-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3783 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
4845339-4878867 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 4870372 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118940
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038237]
[ENSMUST00000101615]
[ENSMUST00000142543]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038237
|
SMART Domains |
Protein: ENSMUSP00000045580 Gene: ENSMUSG00000034274
Domain | Start | End | E-Value | Type |
Pfam:FimP
|
97 |
452 |
1.1e-133 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101615
|
SMART Domains |
Protein: ENSMUSP00000099137 Gene: ENSMUSG00000034274
Domain | Start | End | E-Value | Type |
low complexity region
|
34 |
41 |
N/A |
INTRINSIC |
Pfam:FimP
|
48 |
405 |
7.5e-142 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121125
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142543
|
SMART Domains |
Protein: ENSMUSP00000118940 Gene: ENSMUSG00000034274
Domain | Start | End | E-Value | Type |
Pfam:FimP
|
1 |
301 |
1.3e-97 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155872
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
98% (45/46) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E5.5. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
Akap6 |
A |
G |
12: 52,927,552 (GRCm39) |
H154R |
probably damaging |
Het |
Aoc1 |
T |
C |
6: 48,882,589 (GRCm39) |
L177P |
probably damaging |
Het |
Ascc3 |
A |
G |
10: 50,604,350 (GRCm39) |
T1357A |
probably damaging |
Het |
Atp13a3 |
A |
T |
16: 30,173,067 (GRCm39) |
V270D |
probably damaging |
Het |
Carmil3 |
T |
C |
14: 55,734,433 (GRCm39) |
F418S |
probably damaging |
Het |
Ccdc93 |
A |
G |
1: 121,365,598 (GRCm39) |
N77S |
probably damaging |
Het |
Cpt1b |
T |
C |
15: 89,309,392 (GRCm39) |
K47R |
probably damaging |
Het |
Cyp4f14 |
A |
G |
17: 33,135,736 (GRCm39) |
Y42H |
probably benign |
Het |
Dmxl1 |
G |
A |
18: 49,998,189 (GRCm39) |
S763N |
probably damaging |
Het |
Fancd2 |
T |
G |
6: 113,542,165 (GRCm39) |
S770A |
probably damaging |
Het |
Firrm |
A |
T |
1: 163,815,252 (GRCm39) |
C90S |
probably benign |
Het |
Flnb |
T |
G |
14: 7,889,236 (GRCm38) |
W529G |
probably benign |
Het |
Fryl |
T |
C |
5: 73,258,819 (GRCm39) |
Y655C |
probably benign |
Het |
Gml |
C |
T |
15: 74,685,521 (GRCm39) |
V155M |
probably damaging |
Het |
Gpr174 |
A |
G |
X: 106,336,670 (GRCm39) |
T161A |
probably benign |
Het |
Heatr1 |
G |
T |
13: 12,449,341 (GRCm39) |
L1946F |
probably damaging |
Het |
Inpp5k |
T |
C |
11: 75,538,512 (GRCm39) |
L461P |
probably damaging |
Het |
Isy1 |
T |
C |
6: 87,798,527 (GRCm39) |
E209G |
possibly damaging |
Het |
Kdm5b |
A |
G |
1: 134,558,280 (GRCm39) |
H1429R |
probably benign |
Het |
Magi2 |
C |
T |
5: 20,670,907 (GRCm39) |
T580M |
probably damaging |
Het |
Map3k1 |
C |
T |
13: 111,892,754 (GRCm39) |
V834I |
probably benign |
Het |
Mdn1 |
A |
T |
4: 32,720,818 (GRCm39) |
E2310D |
probably benign |
Het |
Myo15a |
A |
T |
11: 60,368,398 (GRCm39) |
Y386F |
probably damaging |
Het |
Neurod1 |
T |
A |
2: 79,284,939 (GRCm39) |
N148I |
probably damaging |
Het |
Niban1 |
C |
T |
1: 151,565,399 (GRCm39) |
S243L |
possibly damaging |
Het |
Nsa2 |
G |
T |
13: 97,272,042 (GRCm39) |
Q60K |
possibly damaging |
Het |
Pcdha1 |
T |
A |
18: 37,063,855 (GRCm39) |
L173Q |
probably damaging |
Het |
Pdpk1 |
T |
C |
17: 24,329,824 (GRCm39) |
T71A |
possibly damaging |
Het |
Plxna2 |
T |
A |
1: 194,489,829 (GRCm39) |
V1692E |
probably damaging |
Het |
Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
Psg27 |
T |
A |
7: 18,294,279 (GRCm39) |
Q376L |
probably damaging |
Het |
Psmd4 |
T |
C |
3: 94,942,562 (GRCm39) |
D6G |
possibly damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Rala |
T |
A |
13: 18,057,031 (GRCm39) |
E185V |
probably benign |
Het |
Sall4 |
A |
G |
2: 168,598,043 (GRCm39) |
S266P |
probably damaging |
Het |
Scn10a |
T |
C |
9: 119,520,628 (GRCm39) |
T91A |
probably damaging |
Het |
Synrg |
T |
C |
11: 83,892,746 (GRCm39) |
F613S |
probably damaging |
Het |
Tekt1 |
A |
G |
11: 72,235,720 (GRCm39) |
I376T |
probably damaging |
Het |
Tet2 |
T |
C |
3: 133,185,124 (GRCm39) |
K1182R |
possibly damaging |
Het |
Thbs4 |
T |
C |
13: 92,909,672 (GRCm39) |
N375S |
probably benign |
Het |
Tmprss9 |
G |
T |
10: 80,723,301 (GRCm39) |
V254F |
probably damaging |
Het |
Tro |
G |
A |
X: 149,438,048 (GRCm39) |
T203I |
possibly damaging |
Het |
Ttbk2 |
A |
T |
2: 120,604,296 (GRCm39) |
|
probably benign |
Het |
Usf2 |
A |
G |
7: 30,655,256 (GRCm39) |
V133A |
probably benign |
Het |
Wap |
G |
A |
11: 6,588,550 (GRCm39) |
Q25* |
probably null |
Het |
Xdh |
C |
T |
17: 74,200,590 (GRCm39) |
|
probably benign |
Het |
Xrn1 |
G |
T |
9: 95,851,338 (GRCm39) |
M153I |
probably benign |
Het |
|
Other mutations in Thoc5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00790:Thoc5
|
APN |
11 |
4,868,147 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02039:Thoc5
|
APN |
11 |
4,872,027 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02227:Thoc5
|
APN |
11 |
4,876,217 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02970:Thoc5
|
APN |
11 |
4,854,201 (GRCm39) |
missense |
probably damaging |
0.99 |
R0398:Thoc5
|
UTSW |
11 |
4,871,978 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0401:Thoc5
|
UTSW |
11 |
4,852,213 (GRCm39) |
utr 5 prime |
probably benign |
|
R0453:Thoc5
|
UTSW |
11 |
4,868,217 (GRCm39) |
missense |
possibly damaging |
0.60 |
R1223:Thoc5
|
UTSW |
11 |
4,871,922 (GRCm39) |
missense |
probably benign |
0.40 |
R1438:Thoc5
|
UTSW |
11 |
4,861,427 (GRCm39) |
splice site |
probably benign |
|
R1661:Thoc5
|
UTSW |
11 |
4,869,792 (GRCm39) |
missense |
probably benign |
0.04 |
R1665:Thoc5
|
UTSW |
11 |
4,869,792 (GRCm39) |
missense |
probably benign |
0.04 |
R1776:Thoc5
|
UTSW |
11 |
4,864,517 (GRCm39) |
splice site |
probably benign |
|
R1830:Thoc5
|
UTSW |
11 |
4,864,608 (GRCm39) |
missense |
probably benign |
0.02 |
R1912:Thoc5
|
UTSW |
11 |
4,865,561 (GRCm39) |
missense |
probably benign |
0.15 |
R3001:Thoc5
|
UTSW |
11 |
4,878,688 (GRCm39) |
missense |
probably benign |
|
R3002:Thoc5
|
UTSW |
11 |
4,878,688 (GRCm39) |
missense |
probably benign |
|
R4534:Thoc5
|
UTSW |
11 |
4,874,807 (GRCm39) |
nonsense |
probably null |
|
R4619:Thoc5
|
UTSW |
11 |
4,876,218 (GRCm39) |
missense |
probably damaging |
0.96 |
R4747:Thoc5
|
UTSW |
11 |
4,854,187 (GRCm39) |
missense |
probably damaging |
0.99 |
R5106:Thoc5
|
UTSW |
11 |
4,860,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R5310:Thoc5
|
UTSW |
11 |
4,860,648 (GRCm39) |
missense |
probably damaging |
1.00 |
R5914:Thoc5
|
UTSW |
11 |
4,870,416 (GRCm39) |
missense |
possibly damaging |
0.58 |
R5936:Thoc5
|
UTSW |
11 |
4,854,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R6167:Thoc5
|
UTSW |
11 |
4,865,497 (GRCm39) |
missense |
probably benign |
0.12 |
R6209:Thoc5
|
UTSW |
11 |
4,855,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R6243:Thoc5
|
UTSW |
11 |
4,869,753 (GRCm39) |
missense |
possibly damaging |
0.59 |
R6504:Thoc5
|
UTSW |
11 |
4,874,815 (GRCm39) |
nonsense |
probably null |
|
R6833:Thoc5
|
UTSW |
11 |
4,869,804 (GRCm39) |
missense |
probably damaging |
1.00 |
R6874:Thoc5
|
UTSW |
11 |
4,851,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R7048:Thoc5
|
UTSW |
11 |
4,876,237 (GRCm39) |
critical splice donor site |
probably null |
|
R7197:Thoc5
|
UTSW |
11 |
4,865,563 (GRCm39) |
missense |
probably benign |
0.01 |
R7753:Thoc5
|
UTSW |
11 |
4,852,156 (GRCm39) |
missense |
probably damaging |
0.99 |
R7828:Thoc5
|
UTSW |
11 |
4,852,306 (GRCm39) |
start gained |
probably benign |
|
R8416:Thoc5
|
UTSW |
11 |
4,876,068 (GRCm39) |
missense |
probably benign |
0.41 |
R8428:Thoc5
|
UTSW |
11 |
4,876,115 (GRCm39) |
missense |
probably damaging |
0.99 |
R8673:Thoc5
|
UTSW |
11 |
4,876,061 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8964:Thoc5
|
UTSW |
11 |
4,860,647 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9214:Thoc5
|
UTSW |
11 |
4,864,303 (GRCm39) |
missense |
probably benign |
0.13 |
R9651:Thoc5
|
UTSW |
11 |
4,849,883 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCTTTTCTTAGAAGCTGGCC -3'
(R):5'- ACAAGTTCTGAGGAAAAGGTTTCTG -3'
Sequencing Primer
(F):5'- TGGCCACAGATTCATGGGAAC -3'
(R):5'- CTGAGGAAAAGGTTTCTGTTTGTATG -3'
|
Posted On |
2015-03-25 |